Protein level identifier (n.a.):

p.Asn52Ser

cDNA level identifier (n.a.):

c.155A>G

Gene level identifier:

g.2301A>G

Reference, alternative allele:

A, G

Genomic location hg(0)

11:112099388 (not available on ExAC)

Gene name:

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

11 homozygous, 8 compound heterozygous (19 in total).